PURPOSE: To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts. METHODS: A database containing more than 100,000 genotyping assays was queried. Assays for 10 separate AJ genetic diseases where comparisons were made with published data. RESULTS: As expected, we observed lower carrier frequencies in a general, US population than those reported in literature. In 2427 patients tested for a panel of 8 AJ diseases, 20 (1:121) were carriers of two diseases and 331 (1:7) were carriers of a single disease. Fifty-three of 7184 (1:306) individuals tested for Gaucher disease had 2 Gaucher Disease mutations indicating a potentially affected phenotype. CONCLUSIONS: As the number of AJ diseases increases, progressively more individuals will be identified as carriers of at least one disease.
PURPOSE: To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts. METHODS: A database containing more than 100,000 genotyping assays was queried. Assays for 10 separate AJ genetic diseases where comparisons were made with published data. RESULTS: As expected, we observed lower carrier frequencies in a general, US population than those reported in literature. In 2427 patients tested for a panel of 8 AJ diseases, 20 (1:121) were carriers of two diseases and 331 (1:7) were carriers of a single disease. Fifty-three of 7184 (1:306) individuals tested for Gaucher disease had 2 Gaucher Disease mutations indicating a potentially affected phenotype. CONCLUSIONS: As the number of AJ diseases increases, progressively more individuals will be identified as carriers of at least one disease.
Authors: Victoria M Pratt; Barbara Zehnbauer; Jean Amos Wilson; Ruth Baak; Nikolina Babic; Maria Bettinotti; Arlene Buller; Ken Butz; Matthew Campbell; Chris Civalier; Abdalla El-Badry; Daniel H Farkas; Elaine Lyon; Saptarshi Mandal; Jason McKinney; Kasinathan Muralidharan; LeAnne Noll; Tara Sander; Junaid Shabbeer; Chingying Smith; Milhan Telatar; Lorraine Toji; Anand Vairavan; Carlos Vance; Karen E Weck; Alan H B Wu; Kiang-Teck J Yeo; Markus Zeller; Lisa Kalman Journal: J Mol Diagn Date: 2010-10-01 Impact factor: 5.568
Authors: Lisa Kalman; Jean Amos Wilson; Arlene Buller; John Dixon; Lisa Edelmann; Louis Geller; William Edward Highsmith; Leonard Holtegaard; Ruth Kornreich; Elizabeth M Rohlfs; Toby L Payeur; Tina Sellers; Lorraine Toji; Kasinathan Muralidharan Journal: J Mol Diagn Date: 2009-10-08 Impact factor: 5.568
Authors: Feras M Hantash; Susan C Olson; Ben Anderson; Arlene Buller; Rebecca Chen; Beryl Crossly; Weimin Sun; Charles M Strom Journal: J Mol Diagn Date: 2006-05 Impact factor: 5.568
Authors: Charles M Strom; Richard Janeszco; Franklin Quan; Sheng-biao Wang; Arlene Buller; Matthew McGinniss; Weimin Sun Journal: J Mol Diagn Date: 2006-07 Impact factor: 5.568